ronald frank, leibniz institute for molecular pharmacology ... · preliminary list of confirmed...
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PRELIMINARY LIST OF CONFIRMED SPEAKERS
October 8th - 10th, 2014
� e Translational Science of Rare Diseases: From Rare to Care II
Ronald Frank, Leibniz Institute for Molecular Pharmacology, Berlin
(Germany): Open EU screening platform
William A. Gahl, Undiagnosed Diseases Program, NIH, Washington
(USA): Clinical diagnosis of rare diseases
Richard Gregory, Head of Genzyme R&D Center (USA): Innovation in
Rare Disease R&D
Dan Kastner, Director of Intramural Research, NIH, Washington
(USA): Rare diseases of the immune system
Petra Kaufmann, Director of the Division of Clinical Innovation at NIH`s National Center for Advancing Translational Sciences (NCATS), NIH, Washington (USA): NCATS - Catalizing Translational Innovation
Jürgen Knoblich, Institute of Molecular Biotechnology, Vienna
(Austria): In vitro organoid models of rare brain disorders
Hanns Lochmüller, Institute of Genetic Medicine, Newcastle University,
Newcastle upon Tyne (UK): RD-Connect
James Lupski, Baylor College of Medicine, Houston (USA):Genome-wide diagnosis of rare diseases
Shoukhrat Mitalipov, Oregon Health & Science University, Portland
(USA): Germline gene therapy of mitochondrial diseases
Josef Penninger, Institute of Molecular Biotechnology, Vienna
(Austria): Model system for diagnosis and therapies of rare diseases
Ole B. Suhr, Umea University, Umea (Sweden):Safety and e� cacy of RNAi therapy for transthyretin amyloidosis
Takanori Takebe, Department of Regenerative Medicine, Yokohama
University, Yokohama (Japan): Pluripotent stem cells and organ reconstitution for rare diseases
Selected Presentations from the Research Networks on Rare Diseases in Germany.With involvement of patient organisations and pharmaceutical industry.
Organisation/ Registration Lydia Wiesboeck Phone: +49 (0)89 4400-57972 E-Mail: [email protected] www.research4rare.de
Registration: www.rare2care2014.wordpress.com until September 10th, 2014 Picture: 4design-
ersart - fotolia.com
Prof. Dr. Christoph Klein, University Hospital LMU, Munich
Prof. Dr. � omas Klopstock, University Hospital LMU, Munich
Prof. Dr. Josef Penninger, Institute of Molecular Biotechnology, Vienna
Prof. Dr. Johannes Roth, University Hospital Münster
EXECUTIVE COMMITTEE
Prof. Dr. Bernhard Horsthemke, University Hospital Essen
Prof. Dr. Heribert Jürgens, University Hospital Münster
Prof. Dr. Christoph Klein, University Hospital LMU, Munich
Prof. Dr. � omas Klopstock, University Hospital LMU, Munich
Prof. Dr. med. Holger Lerche, University Hospital Tübingen
Prof. Dr. Albert Ludolph, University Hospital Ulm
Prof. Dr. Ulrich Martin, Hannover Medical School
Prof. Dr. Joseph Rosenecker, University Hospital LMU, Munich
Prof. Dr. Johannes Roth, University Hospital Münster
PD Dr. Stefan Schönland, University Hospital Heidelberg
Prof. Dr. Bernd Wissinger, University Hospital Tübingen
Prof. Dr. Bernhard Zabel, University Hospital Freiburg
With involvement of formerly BMBF-funded Networks.
Limited number of travel grants available.
AUDIENCEPhysicians & scientists interested in therapies of rare diseases
Young investigators are particularly welcome!
ABSTRACTS INVITEDFurther information - see online: www.research4rare.de
SCIENTIFIC ADVISORY BOARD (COORDINATORS OF BMBF-FUNDED NETWORKS ON RARE DISEASES)
Location: Herrenchiemsee, Chiemgau (near Munich)
Scientifi c Organisation:
Session 6
Shoukhrat Mitalipov: Germline gene therapy of mitochondrial diseasesChristoph Klein: Novel monogenic diseases of the immune system
Presentation Research Network mitoNET
Presentation Research Network EB-Net
Presentation Research Network TranSaRNet
Session 3
Ronald Frank: Open EU screening platform
Hanns Lochmüller: RD-Connect
Richard Gregory: Innovation in Rare Disease R&D
Panel discussion: politics, pharma industries, patient organisation
Session 4
Presentation Research Network GERAMY
Presentation Research Network NIRK
Presentation Research Network GALENUS
Presentation of selected abstract
Presentation of selected abstract
Session 5
Ole B. Suhr: Safety and e� cacy of RNAi therapy for transthyretin amyloidosisJames Lupski: Genome-wide diagnosis of rare diseases
Presentation of selected abstract
Presentation of selected abstract
Session 1 - Start 2 p.m.
Opening ceremony: Round table debate: Rare Diseases - Prevention or � erapy (with representatives from politics, media, patient groups & others)
William A. Gahl: Clinical diagnosis of rare diseases
Petra Kaufmann: NCATS - Catalyzing Translational Innovation
Session 2
Dan Kastner: Rare diseases of the immune system
Presentation of selected abstract
Presentation Research Network PID-NET
Presentation Research Network AID-NET
Presentation Research Network Imprinting
Dear guests, colleagues and friends,
on behalf of the German National Research Networks on
Rare Diseases we would like to invite you to our international
symposium “Translational Science of Rare Diseases” in
Herrenchiemsee.
Research on Rare Diseases is not only of critical relevance to
patients su� ering from one of more than 7.000 rare disease
entities but may open new horizons to understand fundamental
biological principles and to develop novel therapeutic strategies
for common disorders. � is symposium will focus on cutting-
edge insights and their relevance for the development of therapies.
We are grateful that the German Ministry of Education and
Research has initiated a special funding program on rare diseases.
A� er a decade of support we wish to share exciting results and to
increase enthusiasm for rare disease research.
We are looking forward to welcome you in Herrenchiemsee!
With best regards,
Christoph KleinProfessor of PediatricsDr. von Hauner Children‘s HospitalLudwig-Maximilians-University [email protected]
Wed, October 8th 2014
Thu, October 9th 2014
Fri, October 10th 2014
Session 7
Presentation Research Network CARPuD 2
Presentation Research Network MNDnet
Presentation Research Network IonNeurONet
Takanori Takebe: Pluripotent stem cells and organ reconstitution for rare diseasesPresentation of selected abstract
Presentation of selected abstract
Presentation of selected abstract
Josef PenningerSenior Scientist and Scienti� c DirectorInstitute of Molecular Biotechnology of the Austrian Academy of Science
with kind support of:
Session 8
Presentation of selected abstract
Jürgen Knoblich: In-vitro organoid models of rare brain disorders
Josef Penninger: Model system for diagnosis and therapies of rare diseasesPresentation of selected abstract
Presentation of selected abstract
End 2.30 p.m.